PMID: 11932986Apr 5, 2002Paper

Teratogenesis of holoprosencephaly

American Journal of Medical Genetics
M M Cohen, Kohei Shiota

Abstract

Teratogenic causes of holoprosencephaly are critically assessed. A brief general review of holoprosencephaly is followed by four tables summarizing etiologic factors. Subjects evaluated here include: 1) maternal diabetes; 2) ethyl alcohol; 3) retinoic acid; 4) mutated genes and teratogens involving the sonic hedgehog signaling network and cholesterol biosynthesis; and 5) cholesterol trafficking, sterol adducts, target tissue response, and sterol sensing domain.

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